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New here. Finding my way round
Lelesmummy
Member Posts: 1 Listener
Hi. I'm Lelesmummy. I'm also Jamie's mummy Martin's mummy and squishys mummy 🤣🤣
I am mum to 4 boys. 3 of them are diagnosed with a rare chromosome deletion. 2 of those are diagnosed adhd and autistic and 1 is awaiting tests but he is selective mute and without question autistic and adhd also.
They inherit their chromosome deletion from me. I didn't know I had it u till my lele was tested and then I was too. So far there are only 20 cases in the world like ours. We are only missing a tiny amount from chromosome 15 but it's enough to make life very interesting.
My oldest son is 16 and he sees it as we have evolved quicker than the other more mortals on this earth. Hes aspergers so we allow him that thought 😀😀
Joking aside though. It's very hard work. My husband works 43 hours a week. We do the best we can as a family but it's hard going and exhausting some days.
The hardest part is getting people to understand. Teachers, drs, even family will say "what does it actually mean though?" Our honest answer is we don't know. My optician last week asked me what the chromosome deletion meant for sight. I couldn't tell him, theres only 20 people world wide so no data to use. It's all guess work.
Its exhausting and frightening and sometimes very lonely. Theres lots of things we don't talk about. Like the higher cancer rates in those 20 people. Or the possible heart defect that almost all have had.
Last month my littlest guy had some routine bloods done. The results came back within a few hours. He ended up on a ward having more tests within only a few hours of the dr ringing me and telling me this isn't a joke nor a false alarm and he needs to be brought to emergency care. Turned out he had no platelets or something and they all assumed leukaemia. Thank God it was a false positive test. But that's kind of what our life is like. Lots of guessing and worrying and then lots of just normal madness.
Sorry I'm rambling now. Just hope that I can find some support and offer some to others here.
Thanks for reading.x
I am mum to 4 boys. 3 of them are diagnosed with a rare chromosome deletion. 2 of those are diagnosed adhd and autistic and 1 is awaiting tests but he is selective mute and without question autistic and adhd also.
They inherit their chromosome deletion from me. I didn't know I had it u till my lele was tested and then I was too. So far there are only 20 cases in the world like ours. We are only missing a tiny amount from chromosome 15 but it's enough to make life very interesting.
My oldest son is 16 and he sees it as we have evolved quicker than the other more mortals on this earth. Hes aspergers so we allow him that thought 😀😀
Joking aside though. It's very hard work. My husband works 43 hours a week. We do the best we can as a family but it's hard going and exhausting some days.
The hardest part is getting people to understand. Teachers, drs, even family will say "what does it actually mean though?" Our honest answer is we don't know. My optician last week asked me what the chromosome deletion meant for sight. I couldn't tell him, theres only 20 people world wide so no data to use. It's all guess work.
Its exhausting and frightening and sometimes very lonely. Theres lots of things we don't talk about. Like the higher cancer rates in those 20 people. Or the possible heart defect that almost all have had.
Last month my littlest guy had some routine bloods done. The results came back within a few hours. He ended up on a ward having more tests within only a few hours of the dr ringing me and telling me this isn't a joke nor a false alarm and he needs to be brought to emergency care. Turned out he had no platelets or something and they all assumed leukaemia. Thank God it was a false positive test. But that's kind of what our life is like. Lots of guessing and worrying and then lots of just normal madness.
Sorry I'm rambling now. Just hope that I can find some support and offer some to others here.
Thanks for reading.x
Replies
Hello @Lelesmummy. Pleased to meet you welcome.
Thank you for joining and sharing.
Sorry to hear what you are going through.
I am one of the team of community champions who guide, advise and help new members who join the forum.
I have myself a genetic condition that effects my hands, feet and many other things like hearing, sight.
I can understand what you are experiencing.
I have the contact details for Genetic Disorders UK.
Call 0800 987 8987.
Email [email protected]
We are here to support you. Please ask if we can help. I am sure a member of our SCOPE team might be in touch to offer more information and advice, guidance.
Also members of our community as well.
I know with my own health history went to see a Genetics Advisor.
In my area we have the Centre for Life. Based in Newcastle run by Doctor Burns. Know my health history went there. Something to look at .
Hope that might help you.
Please take care.
@thespiceman
SCOPE Volunteer Award Engaging Communities 2019
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Scope community team
Scope
Your feedback is really important to the development of the online community, so please remember to complete our online community annual survey.
Welcome to the online community. Sounds like you are having a tough time.
The following link will take you to a page within the GARD site (Genetic and Rare Diseases) which has a support group called "Unique - Rare Chromosome Disorder Support Group. There may be someone that you could talk to about your specific chromosome deletion and get some more information and support.
http://https//rarediseases.info.nih.gov/organizations/184
We also offer a new service called Navigate within Scope, where we provide support to parents who have children who have been diagnosed in the past 12 months or are on the pathway to diagnosis. This is a 6 week service where you have a personal advisor to support you.
The link to the online application form is :
www.navigate.org.uk
And the phone number is 0808 801 0510.
I hope that we can help in any way. Take care
Beverley
Parent Advisor
Navigate
Regarding my previous post, I made a mistake with the application form web address. It is actually:
https//www.scope.org.uk/family-services/navigate
Sorry about that.
Beverley
Parent Advisor
Navigate